FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000931568> ?p ?o ?g. }

• W2000931568 endingPage "47" @default.
• W2000931568 startingPage "39" @default.
• W2000931568 abstract "Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue with marked interfamilial and intrafamilial variation in phenotype. The primary defect in affected patients resides in the gene for fibrillin-1 (FBN1) on 15q21. Linkage analysis has shown no locus heterogeneity in the classic phenotype, although substantial allelic heterogeneity exists. Recently it has been shown that the size of the gene is approximately 200 kb. These and other factors have precluded routine mutation screening for presymptomatic and prenatal diagnosis. Previously we described four intragenic microsatellite polymorphisms that can be used for haplotype segregation analysis. The utility of this approach is limited because the markers do not fully span the gene and show incomplete informativeness, with 16% homozygosity for the most common haplotype. We have now identified and localized highly polymorphic microsatellite markers that fall within 1 Mb of FBN1. Complete haplotype heterozygosity was observed in a population of 50 unrelated control individuals when the flanking markers and existing intragenic polymorphisms were used in combination. We demonstrate the utility of haplotype segregation analysis in the presymptomatic diagnosis and counseling of families showing atypical or equivocal manifestations of MFS." @default.
• W2000931568 created "2016-06-24" @default.
• W2000931568 creator A5003200358 @default.
• W2000931568 creator A5038027788 @default.
• W2000931568 creator A5076454382 @default.
• W2000931568 date "2001-01-01" @default.
• W2000931568 modified "2023-09-27" @default.
• W2000931568 title "Characterization of microsatellite markers flankingFBN1: Utility in the diagnostic evaluation for Marfan syndrome" @default.
• W2000931568 cites W1964155253 @default.
• W2000931568 cites W1988244271 @default.
• W2000931568 cites W1995153757 @default.
• W2000931568 cites W2006664291 @default.
• W2000931568 cites W2016085918 @default.
• W2000931568 cites W2016585759 @default.
• W2000931568 cites W2039623012 @default.
• W2000931568 cites W2046902885 @default.
• W2000931568 cites W2047393436 @default.
• W2000931568 cites W2053146170 @default.
• W2000931568 cites W2065142552 @default.
• W2000931568 cites W2072302002 @default.
• W2000931568 cites W2078227152 @default.
• W2000931568 cites W2085252674 @default.
• W2000931568 cites W2145491187 @default.
• W2000931568 cites W2146979392 @default.
• W2000931568 cites W2170121771 @default.
• W2000931568 cites W2322417031 @default.
• W2000931568 cites W2336583262 @default.
• W2000931568 cites W2338638001 @default.
• W2000931568 cites W2339522650 @default.
• W2000931568 cites W2434531298 @default.
• W2000931568 cites W4235224941 @default.
• W2000931568 doi "https://doi.org/10.1002/1096-8628(20010215)99:1<39::aid-ajmg1114>3.0.co;2-3" @default.
• W2000931568 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11170092" @default.
• W2000931568 hasPublicationYear "2001" @default.
• W2000931568 type Work @default.
• W2000931568 sameAs 2000931568 @default.
• W2000931568 citedByCount "11" @default.
• W2000931568 countsByYear W20009315682012 @default.
• W2000931568 countsByYear W20009315682013 @default.
• W2000931568 countsByYear W20009315682014 @default.
• W2000931568 countsByYear W20009315682015 @default.
• W2000931568 countsByYear W20009315682022 @default.
• W2000931568 crossrefType "journal-article" @default.
• W2000931568 hasAuthorship W2000931568A5003200358 @default.
• W2000931568 hasAuthorship W2000931568A5038027788 @default.
• W2000931568 hasAuthorship W2000931568A5076454382 @default.
• W2000931568 hasConcept C104317684 @default.
• W2000931568 hasConcept C122735190 @default.
• W2000931568 hasConcept C126322002 @default.
• W2000931568 hasConcept C127716648 @default.
• W2000931568 hasConcept C142870003 @default.
• W2000931568 hasConcept C143589142 @default.
• W2000931568 hasConcept C180754005 @default.
• W2000931568 hasConcept C197754878 @default.
• W2000931568 hasConcept C2780561598 @default.
• W2000931568 hasConcept C2908647359 @default.
• W2000931568 hasConcept C30481170 @default.
• W2000931568 hasConcept C54355233 @default.
• W2000931568 hasConcept C61320498 @default.
• W2000931568 hasConcept C64618202 @default.
• W2000931568 hasConcept C71924100 @default.
• W2000931568 hasConcept C84597430 @default.
• W2000931568 hasConcept C86803240 @default.
• W2000931568 hasConcept C97603047 @default.
• W2000931568 hasConcept C99454951 @default.
• W2000931568 hasConceptScore W2000931568C104317684 @default.
• W2000931568 hasConceptScore W2000931568C122735190 @default.
• W2000931568 hasConceptScore W2000931568C126322002 @default.
• W2000931568 hasConceptScore W2000931568C127716648 @default.
• W2000931568 hasConceptScore W2000931568C142870003 @default.
• W2000931568 hasConceptScore W2000931568C143589142 @default.
• W2000931568 hasConceptScore W2000931568C180754005 @default.
• W2000931568 hasConceptScore W2000931568C197754878 @default.
• W2000931568 hasConceptScore W2000931568C2780561598 @default.
• W2000931568 hasConceptScore W2000931568C2908647359 @default.
• W2000931568 hasConceptScore W2000931568C30481170 @default.
• W2000931568 hasConceptScore W2000931568C54355233 @default.
• W2000931568 hasConceptScore W2000931568C61320498 @default.
• W2000931568 hasConceptScore W2000931568C64618202 @default.
• W2000931568 hasConceptScore W2000931568C71924100 @default.
• W2000931568 hasConceptScore W2000931568C84597430 @default.
• W2000931568 hasConceptScore W2000931568C86803240 @default.
• W2000931568 hasConceptScore W2000931568C97603047 @default.
• W2000931568 hasConceptScore W2000931568C99454951 @default.
• W2000931568 hasIssue "1" @default.
• W2000931568 hasLocation W20009315681 @default.
• W2000931568 hasLocation W20009315682 @default.
• W2000931568 hasOpenAccess W2000931568 @default.
• W2000931568 hasPrimaryLocation W20009315681 @default.
• W2000931568 hasRelatedWork W1599368627 @default.
• W2000931568 hasRelatedWork W189423584 @default.
• W2000931568 hasRelatedWork W1905960701 @default.
• W2000931568 hasRelatedWork W2000931568 @default.
• W2000931568 hasRelatedWork W2032139146 @default.
• W2000931568 hasRelatedWork W2039482405 @default.
• W2000931568 hasRelatedWork W2116727590 @default.
• W2000931568 hasRelatedWork W2158946780 @default.
• W2000931568 hasRelatedWork W2158988043 @default.

• next